RTD
MCID: RNL028
MIFTS: 51

Renal Tubular Dysgenesis (RTD) malady

Nephrological diseases, Fetal diseases categories

Summaries for Renal Tubular Dysgenesis

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

MalaCards: Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to oligohydramnios and ischemia, and has symptoms including oligoamnios, renal disease/nephropathy and tetralogy of fallot/trilogy of fallot. An important gene associated with Renal Tubular Dysgenesis is AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8)), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Thromboxane signalling through TP receptor. The compounds captopril and sampatrilat have been mentioned in the context of this disorder. Affiliated tissues include kidney and lung, and related mouse phenotypes are renal/urinary system and growth/size.

Description from OMIM:46 267430

Aliases & Classifications for Renal Tubular Dysgenesis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

renal tubular dysgenesis 42 21 46 44 48
primitive renal tubule syndrome 42 21 48
renal tubular dysgenesis of genetic origin 48
allanson pantzar mcleod syndrome 21
renotubular dysgenesis 48
rtd 42


External Ids:

OMIM46 267430
ICD10 via Orphanet26 Q63.8

Related Diseases for Renal Tubular Dysgenesis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis, Ace-Related Renal Tubular Dysgenesis, Agt-Related
Renal Tubular Dysgenesis, Agtr1-Related Renal Tubular Dysgenesis, Ren-Related
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1oligohydramnios30.6ACE
2ischemia30.2AGT
3renal hypertension30.2ACE, REN
4hypertension30.2ACE, REN, AGT, AGTR1
5hemochromatosis10.4
6neonatal hemochromatosis10.4
7renal tubular dysgenesis, ace-related10.3
8renal tubular dysgenesis, agt-related10.3
9renal tubular dysgenesis, agtr1-related10.3
10renal tubular dysgenesis, ren-related10.3
11renal tubular dysgenesis due to twin-twin transfusion10.3
12renal tubular dysgenesis drugs-related10.3
13nephronophthisis10.2
14microcephaly10.2
15nephrocalcinosis10.2
16intestinal perforation10.2
17kidney disease10.2
18anuria10.0ACE
19nephritis10.0ACE
20dilated cardiomyopathy10.0ACE
21fibromuscular dysplasia10.0REN
22portal hypertension10.0REN
23congestive heart failure10.0REN
24obesity10.0AGT
25hypoaldosteronism10.0REN
26hepatorenal syndrome10.0REN
27cor pulmonale10.0AGTR1
28mitral valve prolapse10.0AGTR1
29glomerulonephritis10.0AGTR1
30ovarian hyperstimulation syndrome10.0REN
31proliferative diabetic retinopathy10.0AGT
32metabolic acidosis10.0REN
33nephrotic syndrome10.0ACE, AGT
34liver cirrhosis10.0REN, AGT
35malignant hypertension10.0ACE, REN
36hypertension, diastolic10.0ACE, REN
37dementia10.0AGTR1
38stroke, ischemic10.0REN, ACE
39pure autonomic failure10.0REN, ACE
40gitelman syndrome10.0REN, AGT
41vesicoureteral reflux10.0AGTR1, AGT
42cerebrovascular disease10.0ACE, AGTR1
43hypertensive heart disease10.0ACE, AGTR1
44pulmonary fibrosis10.0AGTR1, AGT
45polycystic kidney disease, autosomal dominant10.0REN, ACE
46angioedema10.0ACE, AGT
47hypokalemia10.0ACE, REN
48erythrocytosis10.0AGTR1, ACE
49focal segmental glomerulosclerosis10.0AGTR1, ACE
50retinal disease10.0ACE, AGT

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to renal tubular dysgenesis

Clinical Features for Renal Tubular Dysgenesis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

267430

Clinical synopsis from OMIM:

267430

Symptoms:

48 (show all 14)
  • oligoamnios
  • renal disease/nephropathy
  • tetralogy of fallot/trilogy of fallot
  • simian crease/transverse/unique palmar crease
  • microcephaly
  • prematurity
  • polyhydramnios
  • stillbirth/neonatal death
  • autosomal recessive inheritance
  • hyperextensible joints/articular hyperlaxity
  • renal tubular defect/tubulopathy
  • polycystic kidneys
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • hypertelorism

Drugs & Therapeutics for Renal Tubular Dysgenesis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Renal Tubular Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Renal Tubular Dysgenesis

Search NIH Clinical Center for Renal Tubular Dysgenesis

Search CenterWatch for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

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Anatomical Context for Renal Tubular Dysgenesis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Renal Tubular Dysgenesis:

32
Kidney, Lung

Animal Models for Renal Tubular Dysgenesis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0ACE, REN, AGT, AGTR1
2MP:00053788.0ACE, REN, AGT, AGTR1
3MP:00053857.9AGTR1, AGT, REN, ACE
4MP:00053877.7AGTR1, AGT, REN, ACE

Publications for Renal Tubular Dysgenesis

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Genetic Variations for Renal Tubular Dysgenesis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Renal Tubular Dysgenesis:

62
id Symbol AA change Variation ID SNP ID
1AGTp.Arg375GlnVAR_035433
2AGTR1p.Thr282MetVAR_035086
3RENp.Arg230LysVAR_035087
4RENp.Asp104AsnVAR_035088

Expression for genes affiliated with Renal Tubular Dysgenesis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for genes affiliated with Renal Tubular Dysgenesis

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
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Compounds for genes affiliated with Renal Tubular Dysgenesis

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1captopril44 28 49 59 1114.3REN
2sampatrilat449.5REN, ACE
3ibopamine449.4REN, ACE
4temocaprilat449.3ACE, AGTR1
5alacepril449.2REN, ACE
6remikiren44 1110.2ACE, REN, AGT
7enalaprilat449.2AGT, REN, ACE
8cv 11974449.1AGT, AGTR1
9perindoprilat449.0REN, ACE
10pd12331944 2810.0AGTR1, AGT, ACE
11lacidipine448.9REN, ACE, AGTR1
12trandolapril44 119.9AGTR1, ACE, REN
13cilazapril44 119.9AGTR1, REN, ACE
14fosinopril44 119.9ACE, REN, AGTR1
15eplerenone44 59 28 1111.9ACE, REN, AGTR1
16quinapril44 119.9ACE, REN, AGTR1
17ramipril44 119.8AGTR1, REN, ACE
18thiazide448.8AGTR1, REN, ACE
19felodipine44 28 1110.8ACE, REN, AGTR1
20dihydropyridine448.8ACE, REN, AGTR1
21spironolactone49 44 59 28 1112.8REN, AGTR1, ACE
22carvedilol44 49 28 1111.8ACE, REN, AGTR1
23nitroglycerin44 119.8AGTR1, REN, ACE
24digoxin44 49 59 11 2412.8AGTR1, REN, ACE
25furosemide44 49 59 28 11 2413.7AGTR1, REN, ACE
26haloperidol44 28 2 49 1112.5AGT, REN, AGTR1
27aliskiren44 119.4ACE, AGTR1, REN, AGT
28saralasin448.4AGTR1, AGT, REN, ACE
29benazepril44 119.4AGTR1, REN, ACE, AGT
30eprosartan44 28 1110.4AGTR1, ACE, REN, AGT
31olmesartan44 28 1110.4AGT, ACE, REN, AGTR1
32lisinopril44 11 2410.4REN, AGT, AGTR1, ACE
33chymostatin448.4ACE, REN, AGT, AGTR1
34atenolol44 28 49 11 2412.4REN, AGT, AGTR1, ACE
35valsartan44 59 28 1111.4ACE, REN, AGT, AGTR1
36perindopril44 49 1110.4ACE, AGTR1, REN, AGT
37telmisartan44 28 1110.4AGTR1, ACE, AGT, REN
38irbesartan44 28 49 1111.4AGT, AGTR1, REN, ACE
39hydrochlorothiazide44 49 28 11 2412.4AGTR1, ACE, REN, AGT
40diltiazem44 28 1110.4AGTR1, AGT, REN, ACE
41candesartan44 28 1110.4AGT, REN, ACE, AGTR1
42enalapril44 49 1110.4AGTR1, REN, AGT, ACE
43amlodipine44 49 11 2411.4REN, AGT, ACE, AGTR1
44ang ii448.4AGTR1, AGT, ACE, REN
45losartan44 49 28 1111.4AGTR1, REN, ACE, AGT
46nifedipine44 49 28 1111.3REN, ACE, AGT, AGTR1
47prostacyclin448.3AGTR1, ACE, REN, AGT
48potassium44 11 2410.2AGTR1, ACE, REN, AGT
49sodium44 249.2AGTR1, AGT, REN, ACE
50creatinine448.1ACE, REN, AGT, AGTR1

GO Terms for genes affiliated with Renal Tubular Dysgenesis

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Sources:
16Gene Ontology
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Cellular components related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.8ACE, REN, AGT

Biological processes related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:0020199.7AGT, ACE
2blood vessel remodelingGO:0019749.6ACE, AGT
3positive regulation of NAD(P)H oxidase activityGO:0338649.5AGTR1, AGT
4regulation of blood vessel size by renin-angiotensinGO:0020349.4AGT, AGTR1
5regulation of renal sodium excretionGO:0358139.4AGT, AGTR1
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.4AGTR1, ACE
7positive regulation of cholesterol esterificationGO:0108739.4AGT, AGTR1
8regulation of vasodilationGO:0423129.4AGTR1, ACE
9low-density lipoprotein particle remodelingGO:0343749.4AGTR1, AGT
10positive regulation of cellular protein metabolic processGO:0322709.4AGT, AGTR1
11positive regulation of macrophage derived foam cell differentiationGO:0107449.3AGTR1, AGT
12positive regulation of reactive oxygen species metabolic processGO:20003799.3AGT, AGTR1
13phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.2AGTR1, AGT
14regulation of blood pressureGO:0082179.2REN, ACE
15positive regulation of inflammatory responseGO:0507299.2AGT, AGTR1
16angiotensin maturationGO:0020039.1AGT, REN, ACE
17regulation of cell proliferationGO:0421279.1AGT, AGTR1
18regulation of vasoconstrictionGO:0192298.9ACE, AGT, AGTR1
19renin-angiotensin regulation of aldosterone productionGO:0020188.9REN, AGT, AGTR1
20regulation of cell growthGO:0015588.8AGT, AGTR1
21cellular protein metabolic processGO:0442678.8ACE, REN, AGT
22kidney developmentGO:0018228.3ACE, REN, AGT, AGTR1

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.1ACE, AGTR1
2acetyltransferase activator activityGO:0106988.8AGT, AGTR1

Products for genes affiliated with Renal Tubular Dysgenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Tubular Dysgenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet